Varaico: Literature-Extracted Genetic Variants

Gene:RPGR

RPGR

940 papers

RefSeq Summary

This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body an...

Pfam Domains

WD40_RLDaa 13–363UCSCRCC1-like domain

Gene Aliases

HGNC Name

retinitis pigmentosa GTPase regulator

HGNC Previous Symbols

CRD; RP3; RP15; COD1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 2152 variants
76 papers
NM_001034853.2
p.E802delFs
c.2405_2406delCT
61 papers
NM_001034853.2
p.E746delFs
c.2236_2237delTC
48 papers
NM_001034853.2
p.E802fs
c.2404_2405fs
40 papers
NM_001034853.2
p.E809delFs
c.2426_2427delCT
30 papers
NM_001034853.2
p.G436D
c.1307G>A
28 papers
NM_001034853.2
p.E746fs
c.2236_2237fs
26 papers
NM_001034853.2
p.V814_E815delFs
c.2442_2445del4
24 papers
NM_001034853.2
p.E1031delFs
c.3092delT
22 papers
NM_001034853.2
p.E809fs
c.2425_2426fs
21 papers
NM_001034853.2
p.G52R
c.154G>A
21 papers
NM_001034853.2
p.E1060delFs
c.3178_3179delTC
19 papers
NM_001034853.2
p.G52R
c.154G>A
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